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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Kittm1Bpr
targeted mutation 1, Brian P Rubin
MGI:3603004
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Kittm1Bpr/Kittm1Bpr either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6) MGI:3603337
ht2
Kittm1Bpr/Kit+ either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6) MGI:3603339


Genotype
MGI:3603337
hm1
Allelic
Composition
Kittm1Bpr/Kittm1Bpr
Genetic
Background
either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kittm1Bpr mutation (0 available); any Kit mutation (182 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die by 30 weeks of age due to gastrointestinal obstruction by hyperplastic interstitial cells of Cajal or gastrointestinal stromal tumors

cellular
• ovaries are devoid of germ cells
• mature spermatids or spermatozoa are absent

pigmentation
• have uniform white coats with normally pigmented dark brown eyes

hematopoietic system
• decrease in dermal mast cells

immune system
• decrease in dermal mast cells

neoplasm
• develop gastrointestinal stromal tumors (GIST) that are composed of a dense, cellular proliferation of monomorphic spindle cells

reproductive system
• ovaries are devoid of germ cells
• mature spermatids or spermatozoa are absent
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells
• seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions
• progressive Leydig cell hyperplasia as mice age

digestive/alimentary system
• interstitial cells of Cajal (ICC) hyperplasia in the esophagus, stomach, proximal duodenum, and the colon/rectum
• ICC is first apparent within the myenterci plexus, grows asymmetrically and is most prominent in the pylorus, where it completely effaces the muscular wall and extends through the muscularis mucosae to engulf the mucosa
• ceca are abnormally firm and contain tumors
• subset of mice develop mega-ileum due to gastrointestinal tract obstruction at the cecum
• develop gastrointestinal stromal tumors (GIST) that are composed of a dense, cellular proliferation of monomorphic spindle cells
• intestinal obstruction at the pylorus or the cecum is seen shortly after weaning and leads to death

growth/size/body
• within 3 weeks of birth, a subset of mice develop distended abdomens due to gastrointestinal tract obstruction at the pylorus

endocrine/exocrine glands
• ovaries consist of stromal cells that range from spindle shaped to more rounded inhibin-positive/Kit-negative luteinized cells
• seminiferous tubules contain only one layer of primary germ cells and no spermatids and contain abundant, pale, eosinophilic, flocculent secretions
• progressive Leydig cell hyperplasia as mice age

integument
• have uniform white coats with normally pigmented dark brown eyes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
gastrointestinal stromal tumor DOID:9253 OMIM:606764
J:100778




Genotype
MGI:3603339
ht2
Allelic
Composition
Kittm1Bpr/Kit+
Genetic
Background
either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kittm1Bpr mutation (0 available); any Kit mutation (182 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
digestive/alimentary system
• interstitial cells of Cajal (ICC) hyperplasia in the cecum and large bowel that is much less extensive than in homozygotes
• develop small cecal gastrointestinal stromal tumors (GIST)

neoplasm
• develop small cecal gastrointestinal stromal tumors (GIST)

pigmentation
N
• normal coat color unlike homozygotes that have a white coat

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
gastrointestinal stromal tumor DOID:9253 OMIM:606764
J:100778





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory